RGS6, regulator of G protein signaling 6, 9628

N. diseases: 117; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		0.010 Biomarker disease BEFREE NF1 mutations tended to cluster in the CSR over the RAS-GAP domain, suggesting that CSR plays a more prominent role in individuals with NF1-pheochromocytoma than in NF1 individuals without this tumor. 17426081 2007
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma 		0.010 AlteredExpression disease BEFREE HA117 expression was closely related to the clinical stage of HL (P=0.004) and to the International Prognostic Index score, mediastinal lesions, and clinical stages of NHL (P=0.01, 0.03, and 0.01). 23619123 2014
CUI: C1719495
Disease: Aggressive periodontitis, generalized
Aggressive periodontitis, generalized 		0.010 GeneticVariation disease BEFREE A total of 84 patients with generalized aggressive periodontitis (GAP,n:29), generalized chronic periodontitis (GCP, n:25), peri-implantitis (PI,n:14), localized aggressive periodontitis (LAP,n:8) and refractory chronic periodontitis (RP,n:8) were consecutively selected from the archives of the Oral Microbiological Diagnostic Laboratory. 25638399 2015
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.010 Biomarker disease BEFREE PCR-GAP, MLPA and FISH analyses established the cause of the α-thalassemia. 26753516 2016
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia 		0.010 Biomarker disease BEFREE PCR-GAP, MLPA and FISH analyses established the cause of the α-thalassemia. 26753516 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 Biomarker disease BEFREE Here, we report the first recapitulation of the selective BFC neuronal loss that is typical of human AD in a mouse model termed GAP. 27193825 2016
CUI: C0332853
Disease: Anastomosis
Anastomosis 		0.020 AlteredExpression disease BEFREE HA117 expression in stenotic segment was higher compared to proximal anastomosis and dilated segment (p < 0.05). 25120773 2014
CUI: C0332853
Disease: Anastomosis
Anastomosis 		0.020 AlteredExpression disease BEFREE The level of HA117 RNA was significantly higher in the stenotic segment compared to proximal anastomosis (P < 0.05). 26097584 2015
CUI: C0201278
Disease: Antibody measurement (procedure)
Antibody measurement (procedure) 		0.100 GeneticVariation group GWASCAT Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. 24324551 2013
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.010 AlteredExpression disease BEFREE Here we explore the role of ARHGAP18, a novel Rho GAP expressed by smooth muscle cells (SMCs), in the pathogenesis of TAA. 28701309 2017
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.010 Biomarker disease BEFREE These results support a role for neurofibromin as the critical GAP in the molecular pathogenesis of NF1 astrocytomas. 11005256 2000
CUI: C0004134
Disease: Ataxia
Ataxia 		0.010 AlteredExpression phenotype BEFREE Dysregulation of RGS6 expression in human patients could potentially contribute to loss of motor coordination and, thus, pharmacological manipulation of RGS6 levels might represent a viable means to treat patients with ataxias of cerebellar origin. 22179605 2012
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.010 Biomarker disease BEFREE Ablation of the major regulator of this pathway, Rgs6, in mice results in irregular cardiac rhythmicity and increases susceptibility to atrial fibrillation. 24204714 2013
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.010 Biomarker group BEFREE Regulation of thymocyte trafficking by Tagap, a GAP domain protein linked to human autoimmunity. 29895617 2018
CUI: C0004604
Disease: Back Pain
Back Pain 		0.010 Biomarker phenotype BEFREE The GAP portal will be designed to be user-friendly and present information on back pain tailored for either patients or physicians in form of brief fact sheets, educative videos, info-graphics, animations and glossaries. 30803433 2019
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 GeneticVariation disease BEFREE When the SNPs were analyzed separately, the RGS6-rs2074647 (C-->T) polymorphism conferred the greatest overall reduction in risk of bladder cancer (odds ratio, 0.66; 95% confidence interval, 0.46-0.95). 15375002 2004
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.060 Biomarker disease BEFREE Transduction of the breast cancer cell line 4T1 with adenoviral vectors encoding the HA117 gene and the green fluorescence protein gene (GFP) (Ad-GFP-HA117), the MDR1 and GFP (Ad-GFP-MDR1) or GFP (Ad-GFP) was respectively carried out. 20642825 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.060 Biomarker disease BEFREE Surprisingly, RGS6-induced apoptosis in both breast cancer cells and mouse embryonic fibroblasts does not require its GAP activity toward G proteins. 21041304 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.060 Biomarker disease BEFREE Connexin26 (Cx26), a component of GAP junctions and until recently believed to be a tumor suppressor gene, has been shown to play an important role in lymphatic invasion as well as lymph node and distant metastases in squamous lung cancer and breast cancer. 18191019 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.060 Biomarker disease BEFREE Our finding that RGS6 is downregulated in all human breast cancer subtypes independent of their molecular classification indicates that obtaining a means to restore the growth suppressive and pro-apoptotic actions of RGS6 in breast might be a viable means to treat a large spectrum of breast tumors. 23598467 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.060 GeneticVariation disease BEFREE Standing in the GAP : To formulate a novel radioimmunotherapy regime to improve the long-term outcome in breast cancer. 29421981 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.060 AlteredExpression disease BEFREE Finally, our data in melanoma and breast carcinoma transfection systems suggest that the biochemical mechanism of nm23 suppressive activity is likely not due to its nucleoside diphosphate kinase activity, association with GAP proteins, or secretion from cells. 8347849 1993
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		0.010 Biomarker disease BEFREE LCI correlated with DL<sub>CO</sub> corrected for haemoglobin (corrDL<sub>CO</sub> ; r = -0.49, P = 0.016), bronchiectasis score (r = 0.45, P = 0.024) and the GAP stage (r = 0.59, P = 0.002), but not with FVC.FVC was not related to bronchiectasis. 29573509 2018
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.100 GeneticVariation phenotype GWASCAT Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders. 30388399 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.030 Biomarker phenotype BEFREE RGS6 loss dramatically accelerates BBN-induced bladder carcinogenesis, with RGS6-/- mice consistently displaying more advanced pathological lesions than RGS6+/+ mice. 27713144 2016